Defeitos da β-Oxidação Mitocondrial: Um Caso Fatal de Deficiência em 3-Hidroxi-Acil-CoA Desidrogenase de Cadeia Longa. (LCHAD)

Descreve-se um caso fatal de deficiência em 3-hidroxi-acil-CoA desidrogenase de cadeia longa (LCHAD) diagnosticado numa criança de 8 meses de idade, segunda filha de um casal jovem, saudável e consanguíneo. Os primeiros sintomas manifestaram-se aos 6,5 meses de idade ao entrar em coma hipoglicémico não cetótico do qual recupera após infusão i.v. de glucose. Detectou-se hepatomegália e posteriormente cardiomegália. A presença de acidúria 3-hidroxi-dicarboxílica foi confirmada após teste de jejum prolongado de 13th e o estudo enzimático efectuado em cultura de fibroblastos de biópsia de pele confirmou o déficit em LCHAD

Avaliação de acessos de melancia quanto a resistência ao fungo Didymella bryoniae.

A técnica de inoculação com injeção de suspensão de esporos se mostrou mais adequada para avaliação dos acessos de melancia

Identificação de fontes de resistência ao câncro das hastes em melancia.

O experimento em campo, teve o objetivo de efetuar uma caracterização morfológica dos frutos dos tratamentos que estavam sendo avaliados

Diversity, distribution and new records of freshwater and estuarine shrimp in the state of Amapá, eastern Brazilian Amazon region.

This study presents the freshwater and estuarine shrimp species that occur in the state of Amapá, in the eastern region of the Brazilian Amazon. The data were obtained through information contained in the Brazilian crustacean collections of the Institute of Scientific and Technological Research of the State of Amapá (IEPA) and the National Institute for Research in the Amazon (INPA) and the detailed examination of the listed specimens. All information contained in the log book and specimen labels were noted for the identification and mapping of occurrence areas in the region. A survey in the literature of the species previously recorded for Amapá was carried out. The diversity of freshwater and estuarine shrimp was composed of 21 species distributed in the following families: Alpheidae (Alpheus nuttingi), Euryrhynchidae (Euryrhynchus amazoniensis, Euryrhynchus burchelli, Euryrhynchus tomasi and Euryrhynchus wrzesniowskii), Lysmatidae (Exhippolysmata oplophoroides), Palaemonidae (Macrobrachium acanthurus, Macrobrachium amazonicum, Macrobrachium brasiliense, Macrobrachium carcinus, Macrobrachium jelskii, Macrobrachium inpa, Macrobrachium olfersii, Macrobrachium surinamicum, Nematopalemon schmitti, Palaemon carteri, Pseudopalaemon amazoniensis, Pseudopalaemon chryseus, Leander tenuicornis), Penaeidae (Xiphopenaeus kroyeri and Sergestidae) (Acetes marinus and Acetes paraguayensis). Alpheus nuttingi and L. tenuicornis were new records for the state of Amapá. This study contributes to the knowledge of the diversity and geographic distribution of decapod crustaceans in Amapá and highlights areas where there are gaps in collection, thus contributing to a better understanding of these invertebrates in the region

Pyruvate Dehydrogenase Complex Deficiency: Updating the Clinical, Metabolic and Mutational Landscapes in a Cohort of Portuguese Patients

Background: The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits. The resulting phenotype, though very heterogeneous, mainly affects the central nervous system. The aim of this study is to describe and discuss the clinical, biochemical and genotypic information from thirteen PDC deficient patients, thus seeking to establish possible genotype-phenotype correlations. Results: The mutational spectrum showed that seven patients carry mutations in the PDHA1 gene encoding the E1α subunit, five patients carry mutations in the PDHX gene encoding the E3 binding protein, and the remaining patient carries mutations in the DLD gene encoding the E3 subunit. These data corroborate earlier reports describing PDHA1 mutations as the predominant cause of PDC deficiency but also reveal a notable prevalence of PDHX mutations among Portuguese patients, most of them carrying what seems to be a private mutation (p.R284X). The biochemical analyses revealed high lactate and pyruvate plasma levels whereas the lactate/pyruvate ratio was below 16; enzymatic activities, when compared to control values, indicated to be independent from the genotype and ranged from 8.5% to 30%, the latter being considered a cut-off value for primary PDC deficiency. Concerning the clinical features, all patients displayed psychomotor retardation/developmental delay, the severity of which seems to correlate with the type and localization of the mutation carried by the patient. The therapeutic options essentially include the administration of a ketogenic diet and supplementation with thiamine, although arginine aspartate intake revealed to be beneficial in some patients. Moreover, in silico analysis of the missense mutations present in this PDC deficient population allowed to envisage the molecular mechanism underlying these pathogenic variants. Conclusion: The identification of the disease-causing mutations, together with the functional and structural characterization of the mutant protein variants, allow to obtain an insight on the severity of the clinical phenotype and the selection of the most appropriate therapy.info:eu-repo/semantics/publishedVersio

Demandas em arranjos agroflorestais com ênfase em fruteiras para dois territórios de identidade no Estado da Bahia.

Este trabalho tem como objetivo conhecer e avaliar problemas, apontar oportunidades que possam promover o desenvolvimento regional por meio de alternativas de produção, de inclusão social visando ao aumento de renda e a sustentabilidade da agricultura de base familiar, através da introdução de fruteiras e da cultura do nim indiano (Azadiracta indica), como fonte de energia, madeira e matéria-prima para controle de pragas na agropecuária. O Projeto abrange dois territórios de identidade, com características distintas, Recôncavo (Figura 1) e Bacia do Paramirim (Figura 2) com climas sub-úmido e semiárido respectivamente, e tem como objetivo transferir tecnologias apropriadas para a agricultura familiar, utilizando nim indiano consorciado com frutíferas arbóreas, culturas alimentares e forrageiras resultando em Sistemas Agroflorestais (SAFs). Por meio de ferramentas de Diagnóstico Rápido Participativo (DRP) possibilita-se o resgate, de forma rápida e concisa, da exploração agrícola de base familiar em ambos os Territórios, tornando os agricultores atores em todas as fases. A aplicação de DRPs junto à comunidade rural de base familiar exige a ordenação dos conhecimentos disponíveis referentes à problemática do espaço rural onde vive a comunidade de agricultores, bem como, o comprometimento e empenho na resolução dos problemas enfrentados no seu cotidiano. Os Sistemas Agroflorestais (SAFs) representam alternativas para a manutenção de uma agricultura de base familiar, face ao elevado potencial que apresentam para alcançar a sustentabilidade da atividade agropecuária. Os SAFs se constituem em sistemas de produção, do uso da terra de maneira racional, estratégica e tática, pois a produção é considerada por unidade de área, principalmente pela combinação simultânea ou escalonada de espécies anuais, semiperenes, perenes, madeireiras, não-madeireiras e de criações de animais, de forma compatível com os padrões dos agricultores familiares. As propriedades emergentes do SAF são chamadas de holismo, ou seja, o todo é mais do que a soma das partes. A sustentabilidade é uma característica inerente aos sistemas agroflorestais, pois estão alicerçados em princípios básicos que envolvem aspectos ecológicos, econômicos e sociais.pdf 259

Non-AIDS-related comorbidities in people living with HIV-1 aged 50 years and older: The AGING POSITIVE study

Objective: To characterize the profile of non-AIDS-related comorbidities (NARC) in the older HIV-1-infected population and to explore the factors associated with multiple NARC. Methods: This was a multicentre, cross-sectional study including HIV-1-infected patients aged ≥50 years, who were virologically suppressed and had been on a stable antiretroviral therapy (ART) regimen for at least 6 months. A multiple regression model explored the association between demographic and clinical variables and the number of NARC. Results: Overall, 401 patients were enrolled. The mean age of the patients was 59.3 years and 72.6% were male. The mean duration of HIV-1 infection was 12.0 years and the median exposure to ART was 10.0 years. The mean number of NARC was 2.1, and 34.7% of patients had three or more NARC. Hypercholesterolemia was the most frequent NARC (60.8%), followed by arterial hypertension (39.7%) and chronic depression/anxiety (23.9%). Arterial hypertension and diabetes mellitus were the most frequently treated NARC (95.6% and 92.6% of cases, respectively). The linear regression analysis showed a positive relationship between age and NARC (B=0.032, 95% confidence interval 0.015-0.049; p=0.0003) and between the duration of HIV-1 infection and NARC (B=0.039, 95% confidence interval 0.017-0.059; p=0.0005). Conclusions: A high prevalence of NARC was found, the most common being metabolic, cardiovascular, and psychological conditions. NARC rates were similar to those reported for the general population, suggesting a larger societal problem beyond HIV infection. A multidisciplinary approach is essential to reduce the burden of complex multi-morbid conditions in the HIV-1-infected population.Merck Sharp & Dohme, Lda, Portugal provided financial support for the non-interventional study (Protocol Nr. MK0518-826 ).info:eu-repo/semantics/publishedVersio

Desempenho de híbridos simples de milho no nordeste brasileiro: safra 2008/2009.

bitstream/CPAMN-2010/24094/1/cot-90.pd

Documento de consenso sobre codificação de exames de ressonância magnética cardíaca em Portugal

One of the obstacles to more frequent and appropriate use of cardiac magnetic resonance (CMR) in Portugal has been the lack of specific codes that accurately describe these examinations as they are currently performed. In this consensus document, recommendations are made for updating and standardizing CMR codes in Portugal. Guidance on which techniques and codes should be used in the most common clinical scenarios is also provided